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Brachydactyly type B: a rare case report and literature review.

Authors :
AbuHaweeleh, Mohannad Natheef
Ahmed, Mohamed Badie
Al-Mohannadi, Fatima Saoud
Mohamed, Massoud Daw
AlSherawi, Abeer
Source :
Journal of Surgical Case Reports. May2024, Vol. 2024 Issue 5, p1-4. 4p.
Publication Year :
2024

Abstract

Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20428812
Volume :
2024
Issue :
5
Database :
Academic Search Index
Journal :
Journal of Surgical Case Reports
Publication Type :
Academic Journal
Accession number :
177681332
Full Text :
https://doi.org/10.1093/jscr/rjae376